Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Autor: Kerman BJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA., Zawatsky CBL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; Broad Institute of Harvard and MIT, Cambridge, MA., Fieg E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA., Frank NY; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; VA Boston Healthcare System, Boston, MA., Donnelly RS; Department of Pharmacy Practice, Massachusetts College of Pharmacy and Health Sciences, Boston, MA., Green RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; Broad Institute of Harvard and MIT, Cambridge, MA., Kennedy JC; Harvard Medical School, Boston, MA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA., Lakdawala N; Harvard Medical School, Boston, MA.; Division of Cardiovascular Medicine, Brigham and Womens Hospital, Boston, MA., Licurse AM; Harvard Medical School, Boston, MA., Perez EF; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA., Preys CL; VA Boston Healthcare System, Boston, MA., Krier JB; Harvard Medical School, Boston, MA.; Atrius Health, Boston, MA., Rana HQ; Harvard Medical School, Boston, MA.; Dana-Farber Cancer Institute, Boston, MA., Zettler B; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA., Vassy JL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; VA Boston Healthcare System, Boston, MA.

Publikováno v: Genetics in medicine open [Genet Med Open] 2024 Feb 21; Vol. 2, pp. 101831. Date of Electronic Publication: 2024 Feb 21 (Print Publication: 2024).

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.

Autor: Flanagan FO; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Holtz AM; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Vargas SO; Department of Pathology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Genetti CA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA., Schmitz-Abe K; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Casey A; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Kennedy JC; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Raby BA; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Mullen MP; Department of Cardiology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. mary.mullen@cardio.chboston.org., Fishman MP; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Agrawal PB; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. pxa502@miami.edu.; Department of Pathology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. pxa502@miami.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA. pxa502@miami.edu.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, FL, USA. pxa502@miami.edu.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2023 Mar 06; Vol. 8 (1), pp. 7. Date of Electronic Publication: 2023 Mar 06.

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The effect of elexacaftor/tezacaftor/ivacaftor (ETI) on glycemia in adults with cystic fibrosis.

Autor: Scully KJ; Division of Endocrinology, Boston Children's Hospital, 333 Longwood Avenue, 6th Floor, Boston, MA, 02115, United States; Harvard Medical School, Boston MA, United States., Marchetti P; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States., Sawicki GS; Harvard Medical School, Boston MA, United States; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States., Uluer A; Harvard Medical School, Boston MA, United States; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA, United States., Cernadas M; Harvard Medical School, Boston MA, United States; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA, United States., Cagnina RE; Harvard Medical School, Boston MA, United States; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA, United States., Kennedy JC; Harvard Medical School, Boston MA, United States; Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, United States; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston MA, United States., Putman MS; Division of Endocrinology, Boston Children's Hospital, 333 Longwood Avenue, 6th Floor, Boston, MA, 02115, United States; Harvard Medical School, Boston MA, United States; Diabetes Research Center, Massachusetts General Hospital, Boston, MA, United States. Electronic address: msputman@partners.org.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2022 Mar; Vol. 21 (2), pp. 258-263. Date of Electronic Publication: 2021 Sep 14.

1-year outcomes for lung transplantation recipients with non-alcoholic fatty liver disease.

Autor: Trindade AJ; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.; Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Thaniyavarn T; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Hashemi N; Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Coppolino A 3rd; Division of Thoracic Surgery, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Kennedy JC; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Mallidi HR; Division of Thoracic Surgery, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.; Division of Cardiac Surgery, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., El-Chemaly S; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Goldberg HJ; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.

Publikováno v: ERJ open research [ERJ Open Res] 2021 Aug 23; Vol. 7 (3). Date of Electronic Publication: 2021 Aug 23 (Print Publication: 2021).